Variant report

Variant	rs12446858
Chromosome Location	chr16:12839291-12839292
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11075148	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11075151	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11641502	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12445596	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12445723	0.84[ASN][1000 genomes]
rs12446541	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12447643	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13332084	0.82[AMR][1000 genomes]
rs72779045	0.85[ASN][1000 genomes]
rs72779047	0.84[ASN][1000 genomes]
rs72779050	0.84[ASN][1000 genomes]
rs72779056	0.83[ASN][1000 genomes]
rs72779059	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72779063	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72779072	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8044840	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1051242	chr16:12482972-12897243	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv542749	chr16:12482972-12897243	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1035581	chr16:12516946-12863700	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1051607	chr16:12522130-13347676	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv542750	chr16:12522130-13347676	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1053617	chr16:12730958-12871639	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv869284	chr16:12735729-13533462	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv1052802	chr16:12766360-12964248	Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1036493	chr16:12817416-12881078	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
11	esv2751547	chr16:12817920-12882336	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
12	esv2751548	chr16:12817920-12892036	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
13	nsv1052892	chr16:12824219-12881078	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
14	nsv525286	chr16:12826785-12878592	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
15	nsv571480	chr16:12826785-12878592	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
16	nsv571481	chr16:12826785-12880446	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
17	esv2751549	chr16:12829006-12880446	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12824800-12847800	Weak transcription	Osteobl	bone
2	chr16:12826600-12851000	Weak transcription	Brain Angular Gyrus	brain
3	chr16:12826800-12844200	Weak transcription	HUVEC	blood vessel
4	chr16:12829000-12839800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr16:12834800-12873600	Weak transcription	Aorta	Aorta
6	chr16:12835600-12846800	Weak transcription	Liver	Liver
7	chr16:12835600-12848000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:12835600-12863400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr16:12835600-12865200	Weak transcription	Ovary	ovary
10	chr16:12835600-12869800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr16:12835800-12851000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr16:12836200-12844200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr16:12837600-12839600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr16:12838200-12839400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
15	chr16:12838200-12839400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr16:12838200-12839600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr16:12838200-12839600	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr16:12838200-12839600	ZNF genes & repeats	HSMM	muscle
19	chr16:12838400-12839400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
20	chr16:12838400-12839600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr16:12838400-12839600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:12838400-12839600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr16:12838400-12839800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
24	chr16:12838800-12839800	ZNF genes & repeats	HepG2	liver
25	chr16:12838800-12841000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr16:12839000-12851400	Weak transcription	Spleen	Spleen
27	chr16:12839200-12839400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr16:12839200-12848000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr16:12839200-12852200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr16:12839200-12863600	Weak transcription	Fetal Intestine Large	intestine
31	chr16:12839200-12869000	Weak transcription	Primary B cells from cord blood	blood

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